TY - JOUR
T1 - Hypertrophic cardiomyopathy
T2 - A heart in need of an energy bar?
AU - Vakrou, Styliani
AU - Abraham, M. Roselle
PY - 2014
Y1 - 2014
N2 - Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.
AB - Hypertrophic cardiomyopathy (HCM) has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.
KW - Bioenergetic deficit
KW - Calcium handling
KW - Hypertrophic cardiomyopathy
KW - Induced pluripotent stem cells (iPSCs)
KW - Mitochondria
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U2 - 10.3389/fphys.2014.00309
DO - 10.3389/fphys.2014.00309
M3 - Review article
C2 - 25191275
AN - SCOPUS:84906490700
SN - 1664-042X
VL - 5 AUG
JO - Frontiers in Physiology
JF - Frontiers in Physiology
M1 - Article 309
ER -